家族性膵がん - MGenReviews

家族性膵がん

腫瘍性疾患

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

Type	Name	Gene Symbol	Clinical Significance	Chromosome	Start	Stop	Reference Allele	Alternate Allele	Review Status	Other IDs
Type	Name	Gene Symbol	Clinical Significance	Chromosome	(GRCh37)		Reference Allele	Alternate Allele	Review Status	Other IDs
single nucleotide variant	NM_000059.4(BRCA2):c.5800C>T (p.Gln1934Ter)	BRCA2	Pathogenic	13	32914292	32914292	C	T	reviewed by expert panel	ClinGen:CA10589329
Deletion	NM_000059.4(BRCA2):c.5809_5812del (p.Ser1937fs)	BRCA2	Pathogenic	13	32914299	32914302	ATGTC	A	reviewed by expert panel	ClinGen:CA10589330
Deletion	NM_000059.4(BRCA2):c.5811_5812del (p.Gly1938fs)	BRCA2	Pathogenic	13	32914303	32914304	CTG	C	reviewed by expert panel	ClinGen:CA10589331
Duplication	NM_000059.4(BRCA2):c.5835_5842dup (p.Cys1948fs)	BRCA2	Pathogenic	13	32914325	32914326	A	ATATCACCT	reviewed by expert panel	ClinGen:CA10589332
Duplication	NM_000059.4(BRCA2):c.5835dup (p.Ser1946fs)	BRCA2	Pathogenic	13	32914326	32914327	T	TA	reviewed by expert panel	ClinGen:CA10589333
Insertion	NM_000059.4(BRCA2):c.5855_5856insAGTT (p.Glu1953fs)	BRCA2	Pathogenic	13	32914345	32914346	T	TTTAG	reviewed by expert panel	ClinGen:CA10589334
Duplication	NM_000059.4(BRCA2):c.5904dup (p.Val1969fs)	BRCA2	Pathogenic	13	32914395	32914396	C	CA	reviewed by expert panel	ClinGen:CA10589335
Deletion	NM_000059.4(BRCA2):c.5918del (p.Asn1973fs)	BRCA2	Pathogenic	13	32914408	32914408	CA	C	reviewed by expert panel	ClinGen:CA10589336
Deletion	NM_000059.4(BRCA2):c.5919del (p.Asn1973fs)	BRCA2	Pathogenic	13	32914411	32914411	AT	A	reviewed by expert panel	ClinGen:CA10589337
Deletion	NM_000059.4(BRCA2):c.5948del (p.Gly1983fs)	BRCA2	Pathogenic	13	32914439	32914439	TG	T	reviewed by expert panel	ClinGen:CA10589338